Untitled - EAS

Steve Humphries

Professor, Institute of Cardiovascular Science, Faculty of Population Health, University College London, London, United Kingdom.

Steve Humphries is a world-renowned expert in cardiovascular genetics with a focus on Familial Hypercholesterolaemia (FH). He worked at University College London from 1991, where he was the British Heart Foundation Professor of Cardiovascular Genetics, retiring in September 2015, and is now the BHF UCL Emeritus Professor of Cardiovascular Genetics.

He directed a major research programme to develop and implement molecular strategies to study the genetic causes and clinical and psychological consequences of FH.

He was the Lead Advisor to the UK NICE guidelines on FH published in 2008, and updated in 2017, and has published on the health economics of cascade testing and universal screening for FH.

He is a member of the Cholesterol and FH Expert Advisory Group and serves as the Director of both the UK FH Paediatric Register and the Simon Broome FH Register.

He is actively involved in teaching, ethics, and public awareness related to the implementation of genetic testing for FH.

Contributions

Overweight, obesity, and cardiovascular disease in heterozygous familial hypercholesterolaemia: the EAS FH Studies Collaboration registry.Epidemiology of FHPublicationPaediatric Lipid Working Group Efficacy and safety of statins, ezetimibe and statins-ezetimibe therapies for children and adolescents with heterozygous familial hypercholesterolaemia: Systematic review, pairwise and network meta-analyses of randomised controlled trials.Treatment of FHPublicationPaediatric Lipid Working Group How does cholesterol burden change the case for investing in Familial Hypercholesterolaemia? A cost-effectiveness analysis.Clinical studies of atherosclerosis in FHPublicationPaediatric Lipid Working Group Cardiovascular disease morbidity is associated with social deprivation in subjects with familial hypercholesterolaemia (FH): A retrospective cohort study of individuals with FH in UK primary care and the UK Simon Broome register, linked with national hospital records.Clinical studies of atherosclerosis in FHPublicationPaediatric Lipid Working Group Evaluating the return of additional findings from the 100,000 Genomes Project: A mixed methods study exploring participant experiences of receiving secondary findings from genomic sequencing.Psychological impact of FH diagnosisPublicationPaediatric Lipid Working Group Prevalence of FH-Causing Variants and Impact on LDL-C Concentration in European, South Asian, and African Ancestry Groups of the UK Biobank-Brief Report.Genetics of FHPublicationPaediatric Lipid Working Group Variants in LPA are associated with Familial Hypercholesterolaemia: whole genome sequencing analysis in the 100,000 Genomes Project.Genetics of FHPublicationPaediatric Lipid Working Group Genetic Determinants of the Familial Hypercholesterolaemia Phenotype.Genetics of FHPublicationPaediatric Lipid Working Group A Machine Learning Model to Aid Detection of Familial Hypercholesterolemia.Screening for FHPublicationPaediatric Lipid Working Group Should Familial Hypercholesterolaemia Be Included in the UK Newborn Whole Genome Sequencing Programme?Screening for FHPublicationPaediatric Lipid Working Group Alternative cascade-testing protocols for identifying and managing patients with familial hypercholesterolaemia: systematic reviews, qualitative study and cost-effectiveness analysis.Screening for FHPublicationPaediatric Lipid Working Group Proposal of a Familial Hypercholesterolemia Pediatric Diagnostic Score (FH-PeDS).Screening for FHPublicationPaediatric Lipid Working Group Universal screening for familial hypercholesterolaemia: how can we maximise benefits and minimise potential harm for children and their families?Screening for FHPublicationPaediatric Lipid Working Group Genetic Diagnosis of Familial Hypercholesterolemia in Residual Newborn Dried Blood Spots.Screening for FHPublicationPaediatric Lipid Working Group Universal paediatric screening for FH - pros & consHoFH Awareness DayWebinars on-demandPaediatric Lipid Working Group